Genetics Flashcards
1
Q
4 parts of history for dysmorphic child
A
- fam Hx
- antenatal
- perinatal
- post-natal
2
Q
parts of family Hx
A
- 3 gens
- birth defects
- consang
- miscarriages
3
Q
parts of antenatal
A
- exposures
- maternal illness (TORCH)
- screening
4
Q
parts of perinatal
A
- GA
- presentation
- complications of L&D
- APGAR
5
Q
parts of post-natal
A
- growth
- dev. progress
- gen. health
- seizures
- vision/hearing
6
Q
Phx
A
see P 127
7
Q
ivestigations (3)
A
- cytogenetics
- molecular Dx
- biochem lab tset
8
Q
DS epi
A
- most common
- rises with maternal age
9
Q
findings for DS
A
see P129
- hypotonic
- short
- ASD/VSD
- wide gap between toes
- motor, cog, lang delays
10
Q
invest. for DS
A
- antenatal possible through amnio
- FISH
- karyotyping
11
Q
def. trisomy 13
A
- micropthamia
- cleft palate
- cardiac abnorm
- forebrain abnorm
- 5-10% survive
12
Q
def. trisomy 18
A
- cardiac and renal abnormal
- craniofacial feat.
- clench fist
- 5-10% survive
13
Q
etiology of fragile X
A
most common inherited abnormality
- unstable FMR1 gene on X
- needed to create neural dendrite
- highly variable
14
Q
Dx fof fragile X
A
PCR or southern blot to determine number of repeats
15
Q
findings for fragile X
A
P 132
- intel. dis
- motor and lang.
- ADHD, ASD, anxiwty
- long narrow face with prominent jaw
- joint laxity, club foot
